{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T09:36:31Z","timestamp":1698485791435},"reference-count":6,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T00:00:00Z","timestamp":1118016000000},"content-version":"vor","delay-in-days":5331,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1990,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Most patients with LEOPARD syndrome (L\u2014lentigines, E\u2014electrocardiographic conduction defects, O\u2014ocular hypertelorism, P\u2014pulmonary stenosis, A\u2014abnormalities of genitalia, R\u2014retardation of growth, D\u2013deafness) seem to lead a relatively normal life, cardiomyopathy being the cause of death in a few. We describe a 19\u2010year\u2010old woman with an extreme form of the syndrome requiring correction of her thoracic deformities and cardiac defects, succumbing ultimately to respiratory insufficiency. The respiratory insufficiency was secondary to her deformed thorax, with the congenital heart defect contributing to the development of pulmonary hypertension. The ventilatory status of LEOPARD syndrome patients may require careful assessment.<\/jats:p>","DOI":"10.1002\/ajmg.1320370309","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:52:22Z","timestamp":1118548342000},"page":"340-341","source":"Crossref","is-referenced-by-count":11,"title":["LEOPARD syndrome: Death because of chronic respiratory insufficiency"],"prefix":"10.1002","volume":"37","author":[{"given":"John R.","family":"Peter","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James S.","family":"Kemp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1969.02100030654006"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.18.4.533"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1001\/archderm.1973.01620170067018","article-title":"The multiple lentigine syndrome","volume":"107","author":"Nordland JJ","year":"1973","journal-title":"Arch Dermatol"},{"key":"e_1_2_1_5_1","first-page":"447","article-title":"Progressive cardiomyopathic lentiginosis","volume":"63","author":"Polani PE","year":"1970","journal-title":"Proc R Soc Med"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(76)90764-6"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196612012752203"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320370309","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320370309","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T16:12:42Z","timestamp":1697991162000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320370309"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,11]]},"references-count":6,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1990,11]]}},"alternative-id":["10.1002\/ajmg.1320370309"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320370309","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,11]]}}}